Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L2472insFs
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PKD1

NM_001009944.3:p.L2472insFs

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.

Zhou C et al.

Bmc Nephrology, 2025

Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.

Xiao M et al.

Frontiers in Medicine, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."